PAX7
| Paired box gene 7 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | PAX7 ; HUP1; PAX7B | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 55665 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PAX7 208060 at tn.png | |||||||||||
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| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Paired box gene 7, also known as PAX7, is a human gene.[1]
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.[1]
See also
References
Further reading
- Blake J, Ziman MR (2003). "Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma?". Histol. Histopathol. 18 (2): 529–39. PMID 12647804.
- Burri M, Tromvoukis Y, Bopp D; et al. (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183–90. PMID 2501086.
- Schäfer BW, Czerny T, Bernasconi M; et al. (1995). "Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes". Nucleic Acids Res. 22 (22): 4574–82. PMID 7527137.
- Shapiro DN, Sublett JE, Li B; et al. (1993). "The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36". Genomics. 17 (3): 767–9. doi:10.1006/geno.1993.1404. PMID 7902328.
- Stapleton P, Weith A, Urbánek P; et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
- Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column". Nat. Genet. 6 (3): 236–44. doi:10.1038/ng0394-236. PMID 8012384.
- Schäfer BW, Mattei MG (1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1): 249–51. doi:10.1006/geno.1993.1315. PMID 8104868.
- Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mamm. Genome. 4 (2): 78–82. PMID 8431641.
- Barr FG, Nauta LE, Davis RJ; et al. (1996). "In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma". Hum. Mol. Genet. 5 (1): 15–21. PMID 8789435.
- Vorobyov E, Mertsalov I, Dockhorn-Dworniczak B; et al. (1997). "The genomic organization and the full coding region of the human PAX7 gene". Genomics. 45 (1): 168–74. doi:10.1006/geno.1997.4915. PMID 9339373.
- Magnaghi P, Roberts C, Lorain S; et al. (1998). "HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3". Nat. Genet. 20 (1): 74–7. doi:10.1038/1739. PMID 9731536.
- Margue CM, Bernasconi M, Barr FG, Schäfer BW (2000). "Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR". Oncogene. 19 (25): 2921–9. doi:10.1038/sj.onc.1203607. PMID 10871843.
- Kondrashov AV, Pospelov VA (2002). "[In vitro modelling of the interactions between the promoter and enhancer complexes]". Tsitologiia. 43 (8): 764–71. PMID 11601392.
- Sorensen PH, Lynch JC, Qualman SJ; et al. (2002). "PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group". J. Clin. Oncol. 20 (11): 2672–9. PMID 12039929.
- Syagailo YV, Okladnova O, Reimer E; et al. (2003). "Structural and functional characterization of the human PAX7 5'-flanking regulatory region". Gene. 294 (1–2): 259–68. PMID 12234688.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Tiffin N, Williams RD, Shipley J, Pritchard-Jones K (2003). "PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells". Br. J. Cancer. 89 (2): 327–32. doi:10.1038/sj.bjc.6601040. PMID 12865925.
- Tomescu O, Xia SJ, Strezlecki D; et al. (2004). "Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression". Lab. Invest. 84 (8): 1060–70. doi:10.1038/labinvest.3700125. PMID 15184910.
- Vorobyov E, Horst J (2005). "Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing". Gene. 342 (1): 107–12. doi:10.1016/j.gene.2004.07.030. PMID 15527970.
External links
- PAX7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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